KEGG   Homo sapiens (human): 123263
Entry
123263            CDS       T01001                                 

Gene name
MTFMT, COXPD15, FMT1, MC1DN27
Definition
(RefSeq) mitochondrial methionyl-tRNA formyltransferase
  KO
K00604  methionyl-tRNA formyltransferase [EC:2.1.2.9]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00670  One carbon pool by folate
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H00473  Mitochondrial complex I deficiency
H00891  Combined oxidative phosphorylation deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    123263 (MTFMT)
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    123263 (MTFMT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.2  Hydroxymethyl-, formyl- and related transferases
    2.1.2.9  methionyl-tRNA formyltransferase
     123263 (MTFMT)
SSDB
Motif
Pfam: Formyl_trans_N Formyl_trans_C
Other DBs
NCBI-GeneID: 123263
NCBI-ProteinID: NP_640335
OMIM: 611766
HGNC: 29666
Ensembl: ENSG00000103707
Vega: OTTHUMG00000172371
Pharos: Q96DP5(Tbio)
UniProt: Q96DP5
LinkDB
Position
15q22.31
AA seq 389 aa
MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAR
EALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDV
GVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPK
RFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPESLSNGRQQPMEGATY
APKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPK
LTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQA
QPSQCRFQTLRLPTKKKQKKTVAMQQCIE
NT seq 1170 nt   +upstreamnt  +downstreamnt
atgagggtgttggtgcggcgctgttggggtcctccgctggctcatggcgccaggcgtggg
aggccgagtccccagtggcgagcactggcccgactcggctgggaggactgccgggactcc
agagtccgcgagaagcctccctggcgggtgctcttcttcggcacggaccagttcgcccgc
gaggcgctgcgggcgctgcacgccgccagggaaaacaaagaagaagagttaatcgacaaa
ctggaggtggtcacaatgccttccccatcaccaaaaggactgccagtgaagcaatatgct
gtgcagtctcagcttcccgtatatgagtggccggatgtgggatctggagaatatgatgtt
ggagtagtggcttcgtttggccgacttttgaatgaggctcttattcttaaatttccctat
ggcatattgaatgttcatcccagttgcctcccgagatggcgtggcccagcccctgtaatc
catacagtgcttcacggagacacagttactggagtaacaattatgcaaattagacctaaa
aggtttgatgtaggcccaattctcaaacaagaaactgttcctgtgccacccaagagcact
gcaaaggaattggaagcagtgttgtcaagactgggtgccaacatgctcatttcagttttg
aaaaatttgcctgaaagtctgagcaatggaaggcagcagccaatggagggggcgacttac
gcccctaagatttctgctggtaccagttgtataaaatgggaggaacaaacttcagaacaa
atattcagactttaccgtgccattggaaatataattccgttgcagacgctctggatggcg
aataccattaaacttctggatttggtagaagttaacagttcagtccttgctgatccaaaa
ttaacgggacaggctcttattccaggatcagtaatataccacaaacagtcacaaatacta
ttggtttattgcaaggatggttggattggtgttcgatcagtgatgctcaagaaatcacta
acagctactgacttctacaatggatatttgcacccctggtaccagaaaaattcccaagct
caaccaagccaatgcagatttcagactctcagacttccaacaaagaagaagcagaaaaaa
actgttgctatgcaacaatgcattgagtag

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